Mutagenetix > Incidental Mutation

Incidental Mutation 'R3623:Bscl2'

268761

Institutional Source

Beutler Lab

Gene Symbol

Bscl2

Ensembl Gene

ENSMUSG00000071657

Gene Name

BSCL2 lipid droplet biogenesis associated, seipin

Synonyms

seipin, Gng3lg

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3623 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8814831-8826047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8818514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 40 (C40S)

Ref Sequence

ENSEMBL: ENSMUSP00000125250 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086058] [ENSMUST00000096259] [ENSMUST00000159634] [ENSMUST00000160556] [ENSMUST00000160897] [ENSMUST00000171649]

AlphaFold

Q9Z2E9

Predicted Effect

probably benign
Transcript: ENSMUST00000086058

SMART Domains

Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	37	243	3.9e-71	PFAM
Blast:PAC	269	306	4e-7	BLAST
low complexity region	353	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096259

SMART Domains

Protein: ENSMUSP00000093978
Gene: ENSMUSG00000071658

Domain	Start	End	E-Value	Type
G_gamma	9	75	1.21e-24	SMART
GGL	13	75	1.68e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159571

Predicted Effect

probably benign
Transcript: ENSMUST00000159634

SMART Domains

Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	37	243	3.9e-71	PFAM
Blast:PAC	269	306	4e-7	BLAST
low complexity region	353	371	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159770

Predicted Effect

probably benign
Transcript: ENSMUST00000160556

SMART Domains

Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657

Domain	Start	End	E-Value	Type
Pfam:Seipin	37	243	3.9e-71	PFAM
Blast:PAC	269	306	4e-7	BLAST
low complexity region	353	371	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160897
AA Change: C40S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000125250
Gene: ENSMUSG00000071657
AA Change: C40S

Domain	Start	End	E-Value	Type
Pfam:Seipin	97	208	2.8e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171649
AA Change: C40S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657
AA Change: C40S

Domain	Start	End	E-Value	Type
Pfam:Seipin	99	302	8.5e-66	PFAM
Blast:PAC	329	366	2e-6	BLAST
low complexity region	413	431	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162580

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe generalized lipodystrophy with hepatic steatosis, glucose intolerance, and insulin resistance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	A	G	11: 7,080,348 (GRCm39)	T364A	probably benign	Het
Adpgk	G	A	9: 59,221,036 (GRCm39)	V281I	probably benign	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,331,968 (GRCm39)	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,740,244 (GRCm39)	E104G	possibly damaging	Het
Becn2	T	C	1: 175,748,197 (GRCm39)	C88R	possibly damaging	Het
Btaf1	A	G	19: 36,958,486 (GRCm39)	T668A	probably benign	Het
Camk2g	G	A	14: 20,805,775 (GRCm39)		probably benign	Het
Cd109	A	T	9: 78,574,639 (GRCm39)	D541V	probably damaging	Het
Cep135	G	A	5: 76,772,586 (GRCm39)	G657D	probably benign	Het
Coch	A	G	12: 51,649,609 (GRCm39)	I307V	probably benign	Het
D17H6S53E	A	G	17: 35,346,512 (GRCm39)	E141G	probably benign	Het
Ddias	T	C	7: 92,508,800 (GRCm39)	T372A	probably benign	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dock8	A	G	19: 25,057,241 (GRCm39)	Q216R	probably benign	Het
Ep400	T	C	5: 110,867,102 (GRCm39)	Y1014C	unknown	Het
Ephx1	A	G	1: 180,817,498 (GRCm39)	I391T	probably benign	Het
Fcgbp	A	G	7: 27,800,701 (GRCm39)	Y1249C	probably damaging	Het
Gm5592	T	C	7: 40,807,052 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,629 (GRCm39)	N149S	probably benign	Het
Greb1l	T	A	18: 10,542,380 (GRCm39)	I1325N	probably damaging	Het
H2-T3	T	C	17: 36,500,957 (GRCm39)	T20A	possibly damaging	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Irs2	C	T	8: 11,057,643 (GRCm39)	G263D	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Mdfic	T	A	6: 15,770,319 (GRCm39)	N108K	probably damaging	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Mettl21e	T	A	1: 44,245,857 (GRCm39)	I130F	probably damaging	Het
Mlh3	C	T	12: 85,315,169 (GRCm39)	C339Y	probably damaging	Het
Mog	T	C	17: 37,323,338 (GRCm39)	H200R	possibly damaging	Het
Msrb3	C	T	10: 120,620,103 (GRCm39)	R72H	probably damaging	Het
Mtmr11	A	G	3: 96,072,583 (GRCm39)	H324R	probably damaging	Het
Myh7	T	C	14: 55,210,838 (GRCm39)	E1693G	probably damaging	Het
Nadk2	T	A	15: 9,084,303 (GRCm39)	W139R	probably damaging	Het
Ndufa9	A	T	6: 126,821,362 (GRCm39)	M76K	possibly damaging	Het
Nr1i2	A	G	16: 38,086,269 (GRCm39)		probably benign	Het
Nsd3	A	G	8: 26,152,835 (GRCm39)	T392A	probably damaging	Het
Or14a259	A	G	7: 86,013,308 (GRCm39)	F79S	probably benign	Het
Or52d3	T	C	7: 104,229,149 (GRCm39)	S99P	probably damaging	Het
P2ry2	A	T	7: 100,647,706 (GRCm39)	S200T	probably benign	Het
Pcnt	T	A	10: 76,269,584 (GRCm39)	E228V	probably benign	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Pkhd1l1	A	T	15: 44,390,265 (GRCm39)	K1460N	probably damaging	Het
Rpl7a-ps3	G	A	15: 36,308,429 (GRCm39)		noncoding transcript	Het
Rspry1	A	G	8: 95,376,405 (GRCm39)	D309G	probably damaging	Het
Scap	A	G	9: 110,209,271 (GRCm39)	Y648C	probably damaging	Het
Sgcz	T	C	8: 38,420,201 (GRCm39)	E17G	probably damaging	Het
Slc17a5	A	T	9: 78,445,556 (GRCm39)	V433D	probably damaging	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Srcap	T	C	7: 127,141,319 (GRCm39)	S1639P	probably damaging	Het
Strn3	T	C	12: 51,707,999 (GRCm39)	Y132C	possibly damaging	Het
Tas2r110	A	T	6: 132,845,433 (GRCm39)	M155L	probably benign	Het
Tasor2	T	C	13: 3,645,556 (GRCm39)	T98A	probably benign	Het
Thbd	A	G	2: 148,248,893 (GRCm39)	V325A	probably damaging	Het
Trpd52l3	T	A	19: 29,981,333 (GRCm39)	C29*	probably null	Het
Trpm1	A	G	7: 63,894,601 (GRCm39)	Y951C	probably damaging	Het
Ube3a	T	A	7: 58,921,860 (GRCm39)	N77K	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Usp35	T	C	7: 96,961,827 (GRCm39)	H533R	probably damaging	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,792,997 (GRCm39)	R775G	probably damaging	Het
Vps13c	T	A	9: 67,883,189 (GRCm39)		probably null	Het
Vps37c	T	A	19: 10,683,569 (GRCm39)		probably null	Het
Zap70	C	T	1: 36,818,216 (GRCm39)	T301I	probably benign	Het
Zfp341	A	G	2: 154,466,801 (GRCm39)	K57E	probably damaging	Het
Zfp60	T	A	7: 27,448,753 (GRCm39)	F474I	probably benign	Het
Zfp786	T	C	6: 47,798,357 (GRCm39)	N194D	probably benign	Het

Other mutations in Bscl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01908:Bscl2	APN	19	8,822,640 (GRCm39)	missense	probably damaging	0.99
IGL03206:Bscl2	APN	19	8,820,453 (GRCm39)	missense	probably damaging	0.97
R0193:Bscl2	UTSW	19	8,824,793 (GRCm39)	missense	probably benign	0.21
R1112:Bscl2	UTSW	19	8,817,098 (GRCm39)	missense	possibly damaging	0.90
R1513:Bscl2	UTSW	19	8,818,509 (GRCm39)	missense	probably damaging	1.00
R2049:Bscl2	UTSW	19	8,822,684 (GRCm39)	splice site	probably null
R2121:Bscl2	UTSW	19	8,817,146 (GRCm39)	nonsense	probably null
R2140:Bscl2	UTSW	19	8,822,684 (GRCm39)	splice site	probably null
R2142:Bscl2	UTSW	19	8,822,684 (GRCm39)	splice site	probably null
R2483:Bscl2	UTSW	19	8,818,514 (GRCm39)	missense	probably benign	0.01
R4177:Bscl2	UTSW	19	8,817,120 (GRCm39)	missense	possibly damaging	0.85
R4675:Bscl2	UTSW	19	8,825,523 (GRCm39)	missense	possibly damaging	0.81
R4967:Bscl2	UTSW	19	8,825,344 (GRCm39)	missense	probably benign	0.02
R5051:Bscl2	UTSW	19	8,822,643 (GRCm39)	nonsense	probably null
R5446:Bscl2	UTSW	19	8,823,564 (GRCm39)	missense	possibly damaging	0.91
R6493:Bscl2	UTSW	19	8,817,138 (GRCm39)	missense	probably damaging	1.00
R6838:Bscl2	UTSW	19	8,818,745 (GRCm39)	missense	probably damaging	1.00
R7117:Bscl2	UTSW	19	8,825,878 (GRCm39)	missense	possibly damaging	0.68
R7401:Bscl2	UTSW	19	8,823,914 (GRCm39)	missense	possibly damaging	0.57
R7923:Bscl2	UTSW	19	8,824,883 (GRCm39)	missense	probably benign	0.00
R8249:Bscl2	UTSW	19	8,823,884 (GRCm39)	missense	probably damaging	1.00
R8332:Bscl2	UTSW	19	8,823,594 (GRCm39)	missense	probably benign	0.23
R8748:Bscl2	UTSW	19	8,825,311 (GRCm39)	missense	probably damaging	0.99
R8870:Bscl2	UTSW	19	8,824,793 (GRCm39)	missense	probably benign	0.02
R8926:Bscl2	UTSW	19	8,825,348 (GRCm39)	critical splice donor site	probably null
R9249:Bscl2	UTSW	19	8,820,378 (GRCm39)	missense	probably damaging	1.00
R9691:Bscl2	UTSW	19	8,817,110 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCGCATGTGAAGCAATGAC -3'
(R):5'- CTGTAGTGGAAGTGCACAGG -3'

Sequencing Primer
(F):5'- AATGACTTTGCTTTGCCCTG -3'
(R):5'- CCGTCGGCATGTAGGAGTAG -3'

Posted On

2015-02-19